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Supporting Data for: The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies

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Zenodo2026-05-13 更新2026-05-26 收录
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The HuRef2.0 assembly is deposited at NCBI GenBank under accession JBPPLP01. The VCF file contains the phased heterozygous sites and associated phase blocks of HuRef2.0, a telomere-to-telomere assembly from the human blood sample JCV_blood20231026. There are 5 FASTA files containing the haplotype construction of the extended MHC region, 22q11.2 region, 5S rDNA cluster, COL4A4 and RAD51C of the same sample JCV_blood20231026. An extra FASTA file contains the haplotype construction of the 5S rDNA cluster of the JCV37772 cell line.

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Zenodo
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2026-05-13
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